103-69-5

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Marfan syndrome and related connective tissue disorders in the current era in Switzerland in 103 patients: medical and surgical management and impact of genetic testing.

Elisa Bombardieri et al.

Swiss medical weekly, 150, w20189-w20189 (2020-04-04)

Marfan syndrome (MFS) and related connective tissue disorders (CTDs) are increasingly recognised. Genetic testing has greatly improved the diagnostic outcome/power over the last two decades. In this study we describe a multicentre cohort of adults with MFS and related CTDs

Identification of a novel in-frame deletion in BRCA2 and analysis of variants of BRCA1/2 in Italian patients affected with hereditary breast and ovarian cancer.

Maria Teresa Vietri et al.

Clinical chemistry and laboratory medicine, 50(12), 2171-2180 (2012-10-26)

An estimated 5 % – 10 % of all breast cancers are due to an inherited predisposition and, out of these, about 30 % are caused by germline mutations of the BRCA1 and BRCA2 genes. The prevalence of germline mutations

Gene and cluster-specific expression of the Iroquois family members during mouse development.

A C Houweling et al.

Mechanisms of development, 107(1-2), 169-174 (2001-08-25)

Mammalian homologues of the Drosophila Iroquois homeobox gene complex, involved in patterning and regionalization of differentiation, have recently been identified (Mech. Dev., 69 (1997) 169; Dev. Biol., 217 (2000) 266; Dev. Dyn., 218 (2000) 160; Mech. Dev., 91 (2000) 317;

[The presence of dry eye syndrome and corneal complications in patients with rheumatoid arthritis and its association with -174 gene polymorphism for interleukin 6].

V Polanská et al.

Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti, 64(2), 77-80 (2008-04-19)

The aim of this study was to evaluate the presence of the dry eye syndrome and corneal complications in patients with rheumatoid arthritis and to assess its association with the -174 gene polymorphism for interleukin 6. The group consisted of

Norepinephrine transporter-deficient mice exhibit excessive tachycardia and elevated blood pressure with wakefulness and activity.

Nancy R Keller et al.

Circulation, 110(10), 1191-1196 (2004-09-01)

Norepinephrine (NE) is a primary neurotransmitter of central autonomic regulation and sympathetic nerve conduction, and the norepinephrine transporter (NET) is crucial in limiting catecholaminergic signaling. NET is sensitive to antidepressants, cocaine, and amphetamine. NET blockade often is associated with cardiovascular

Marked heterogeneity of ERG expression in large primary prostate cancers.

Sarah Minner et al.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 26(1), 106-116 (2012-08-18)

Approximately 50% of prostate cancers are characterized by TMPRSS2 (transmembrane protease serine 2)-ERG (avian v-ets erythroblastosis virus E26 oncogene homolog) gene fusions resulting in an androgen-regulated overexpression of the transcription factor ERG. Some studies have suggested prognostic or predictive relevance

Prognostic impact of somatostatin receptor expression in advanced bladder cancer.

Moritz Maas et al.

Urologic oncology, 38(12), 935-935 (2020-08-11)

Somatostatin receptors (SSTR) recently have been identified as potential targets for treatment of solid tumors. Furthermore, they have been shown to be of high relevance for tumor biology and prognosis in various types of cancer. However, there is a lack

Modulation of [3H]MK-801 binding to NMDA receptors in vivo and in vitro.

F Murray et al.

European journal of pharmacology, 397(2-3), 263-270 (2000-06-14)

[3H]MK-801 binding in vivo was used to determine the occupancy of NMDA receptor ligands shown to allosterically modulate binding in vitro. ED(50) values (mg/kg) were obtained for the channel blockers (+)-5-methyl-10,11-dihydro-5,4-dibenzo[a,d]cyclohepten-5,10-imine maleate ((+)-MK-801, 0.2), 1-(1-phenylcyclohexyl)piperidine (phencyclidine, PCP, 1.7) and ketamine

RNA-binding protein LIN28 is a marker for testicular germ cell tumors.

Dengfeng Cao et al.

Human pathology, 42(5), 710-718 (2011-02-04)

LIN28 is an RNA-binding protein involved in maintaining the pluripotency of embryonic stem cells. Using formalin-fixed, paraffin-embedded tissue blocks, we performed immunohistochemical staining of LIN28 in 103 primary and 81 metastatic testicular germ cell tumors (54 intratubular germ cell neoplasias

Diet-induced obesity associated with steatosis, oxidative stress, and inflammation in liver.

Yanhua Peng et al.

Surgery for obesity and related diseases : official journal of the American Society for Bariatric Surgery, 8(1), 73-81 (2011-10-08)

Obesity induces steatosis and increases oxidative stress, as well as chronic inflammation in the liver. The balance between lipogenesis and lipolysis is disrupted in obese animals. At a cellular level, the changes in metabolic sensors and energy regulators are poorly

Different concepts in first-line treatment of essential hypertension. Comparison of a low-dose reserpine-thiazide combination with nitrendipine monotherapy. German Reserpine in Hypertension Study Group.

B Krönig et al.

Hypertension (Dallas, Tex. : 1979), 29(2), 651-658 (1997-02-01)

Low-dose combination therapy has been proposed as a rational first-line approach to hypertension treatment. We compared the efficacy and tolerability of the fixed combination of reserpine (0.1 mg) plus the thiazide clopamid (5 mg) with its single components and the

Amantadine and rimantadine for influenza A in children and the elderly.

Márcia G Alves Galvão et al.

The Cochrane database of systematic reviews, 1, CD002745-CD002745 (2012-01-20)

The effectiveness and safety of amantadine (AMT) and rimantadine (RMT) for preventing and treating influenza A in adults has been systematically reviewed. However, little is known about these treatments in children and the elderly. To systematically review the effectiveness and

Effect of phosphodiesterase-5 inhibition on exercise capacity and clinical status in heart failure with preserved ejection fraction: a randomized clinical trial.

Margaret M Redfield et al.

JAMA, 309(12), 1268-1277 (2013-03-13)

Studies in experimental and human heart failure suggest that phosphodiesterase-5 inhibitors may enhance cardiovascular function and thus exercise capacity in heart failure with preserved ejection fraction (HFPEF). To determine the effect of the phosphodiesterase-5 inhibitor sildenafil compared with placebo on

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